Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease type 1 that has material basis in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22)
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Charcot-Marie-Tooth disease type 1E
Summary
Charcot-Marie-Tooth disease type 1E is a head and neck disease[1].
Key Facts
- Charcot-Marie-Tooth disease type 1E's instance of is recorded as head and neck disease[2].
- Charcot-Marie-Tooth disease type 1E's instance of is recorded as developmental defect during embryogenesis[3].
- Charcot-Marie-Tooth disease type 1E's instance of is recorded as rare disease[4].
- Charcot-Marie-Tooth disease type 1E's instance of is recorded as class of disease[5].
- Charcot-Marie-Tooth disease type 1E is a type of Charcot-Marie-Tooth disease type 1[6].
- Charcot-Marie-Tooth disease type 1E is a type of syndromic genetic deafness[7].
- Charcot-Marie-Tooth disease type 1E is a type of autosomal dominant disease[8].
- Charcot-Marie-Tooth disease type 1E's health specialty is recorded as neurology[9].
- Charcot-Marie-Tooth disease type 1E's genetic association is recorded as PMP22[10].
- Charcot-Marie-Tooth disease type 1E's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110153[11].
- Charcot-Marie-Tooth disease type 1E's exact match is recorded as http://identifiers.org/doid/DOID:0110153[12].
- Charcot-Marie-Tooth disease type 1E's on focus list of Wikimedia project is recorded as WikiProject Medicine[13].